Dominant optic atrophy (OPA1) mapped to chromosome 3q region. I. Linkage analysis

A Olichon, E Guillou, C Delettre, T Landes… - … et Biophysica Acta (BBA …, 2006 - Elsevier

The mitochondria are dynamic organelles that constantly fuse and divide. An equilibrium
between fusion and fission controls the morphology of the mitochondria, which appear as …

被引用次数：273 相关文章所有 11 个版本

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Autosomal dominant optic atrophy associated with hearing impairment and impaired glucose regulation caused by a missense mutation in the WFS1 gene

H Eiberg, L Hansen, B Kjer, T Hansen… - Journal of medical …, 2006 - jmg.bmj.com

Autosomal dominant optic atrophy (ADOA) is genetically heterogeneous, with OPA1 on
3q28 being the most prevalently mutated gene. Additional loci are OPA3, OPA4, and OPA5 …

被引用次数：134 相关文章所有 13 个版本

OPA1 expression in the human retina and optic nerve

AG Wang, MJ Fann, HY Yu, MY Yen - Experimental eye research, 2006 - Elsevier

Mutations in the optic atrophy type 1 (OPA1) gene give rise to human autosomal dominant
optic atrophy. The purpose of this study is to investigate OPA1 protein expression in the …

被引用次数：33 相关文章所有 7 个版本

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[PDF][PDF] Mitochondrial ophthalmology

V Carelli, P Barboni, AA Sadun - Mitochondrial Medicine. Oxford …, 2006 - ndl.ethernet.edu.et

The first disorder was characterized by progressive external ophthalmoplegia (PEO),
mitochondrial myopathy with ragged-red fibers (RRF), and large-scale deletions of mtDNA. 1 …

被引用次数：28 相关文章

常染色体显性视神经萎缩的研究进展

张艳玲，刘祖国 - 国际眼科纵览, 2006 - cqvip.com

常染色体显性视神经萎缩(ADOA), 即Kjer 型, 是最常见的遗传性视神经病变.
主要临床表现为中度到重度不等的视力下降, 双眼颞侧视神经萎缩, 中心暗点或旁中心暗点以及 …

被引用次数：1 相关文章所有 3 个版本

遗传性视神经变性疾病与线粒体功能障碍

施维，钟勇 - 国际眼科纵览, 2006 - cqvip.com